Allele Registry

Canonical Allele Identifier: PA2830147793

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450547

ClinVar RCV:

RCV000541035

ClinVar Variation:

476545

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1454Gln	CA2188423 NM_057166.5:c.4361G>A